PsyMuKB

Visualization of regulatory element with DNMs in transcripts

Visualization of de novo variants in transcripts

Visualization of original de novo CNV set

There is no corresponding data published yet, we will update it when such data available.

Transcripts

Transcript ID	Transcript exon region	Coding exon region
ENST00000601101	[[8373489, 8373768], [8376295, 8376479], [8385740, 8385790], [8386191, 8386259]]	[[8376388, 8376479], [8385740, 8385790], [8386191, 8386242]]
ENST00000593729	[[8373651, 8373768], [8376295, 8376479], [8381379, 8381529], [8385740, 8385790], [8386191, 8386259]]	[[8376388, 8376479], [8381379, 8381529], [8385740, 8385790], [8386191, 8386242]]
ENST00000595856	[[8373761, 8373768], [8376295, 8376479], [8381379, 8381529], [8384184, 8384278], [8385740, 8385790], [8386191, 8386259]]	[[8381493, 8381529], [8384184, 8384278], [8385740, 8385790], [8386191, 8386242]]
ENST00000602059	[[8375388, 8375656], [8384184, 8384444]]	None
ENST00000301457	[[8376167, 8376479], [8381379, 8381529], [8385740, 8385790], [8386191, 8386280]]	[[8376388, 8376479], [8381379, 8381529], [8385740, 8385790], [8386191, 8386242]]
ENST00000601258	[[8376249, 8376479], [8381379, 8381696]]	None
NR_135539	[[8373486, 8373768], [8376295, 8376479], [8381379, 8381529], [8385740, 8385790], [8386191, 8386297]]	None
NM_005001	[[8376233, 8376479], [8381379, 8381529], [8385740, 8385790], [8386191, 8386297]]	[[8376388, 8376479], [8381379, 8381529], [8385740, 8385790], [8386191, 8386242]]

Promoter

Chrom	Start	End	Description
chr19	8386238	8386283	CAGE_peak_1_at_NDUFA7_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I008314	8314358	8317726	0.54	[{'connected_gene': 'RPS28', 'score': 47.89}, {'connected_gene': 'CD320', 'score': 13.44}, {'connected_gene': 'ENSG00000167774', 'score': 0.44}, {'connected_gene': 'NDUFA7', 'score': 0.44}]
chr19	GH19I008311	8311780	8312268	0.56	[{'connected_gene': 'RPS28', 'score': 16.99}, {'connected_gene': 'CD320', 'score': 11.9}, {'connected_gene': 'ENSG00000167774', 'score': 0.44}, {'connected_gene': 'NDUFA7', 'score': 0.44}]
chr19	GH19I008319	8319654	8323257	2.07	[{'connected_gene': 'RPS28', 'score': 694.49}, {'connected_gene': 'GC19P008321', 'score': 550.77}, {'connected_gene': 'ENSG00000167774', 'score': 550.77}, {'connected_gene': 'NDUFA7', 'score': 550.77}, {'connected_gene': 'HNRNPM', 'score': 59.51}, {'connected_gene': 'XAB2', 'score': 55.38}, {'connected_gene': 'ZNF317', 'score': 45.67}, {'connected_gene': 'ZNF699', 'score': 44.75}, {'connected_gene': 'ZNF558', 'score': 41.82}, {'connected_gene': 'MAP2K7', 'score': 30.86}, {'connected_gene': 'ELAVL1', 'score': 23.71}, {'connected_gene': 'ZNF414', 'score': 23.22}, {'connected_gene': 'CD320', 'score': 13.4}, {'connected_gene': 'STXBP2', 'score': 9.72}, {'connected_gene': 'KANK3', 'score': 0.34}]
chr19	GH19I007368	7368156	7369650	0.63	[{'connected_gene': 'CAMSAP3', 'score': 10.97}, {'connected_gene': 'ZNF557', 'score': 4.99}, {'connected_gene': 'NDUFA7', 'score': 4.55}, {'connected_gene': 'GC19P007378', 'score': 0.44}, {'connected_gene': 'ENSG00000263264', 'score': 0.37}, {'connected_gene': 'ARHGEF18', 'score': 0.37}]
chr19	GH19I008306	8306161	8309444	2.06	[{'connected_gene': 'CD320', 'score': 563.78}, {'connected_gene': 'RPS28', 'score': 33.26}, {'connected_gene': 'ZNF558', 'score': 14.93}, {'connected_gene': 'ELAVL1', 'score': 14.53}, {'connected_gene': 'HNRNPM', 'score': 13.65}, {'connected_gene': 'XAB2', 'score': 12.55}, {'connected_gene': 'MAP2K7', 'score': 10.23}, {'connected_gene': 'ENSG00000269300', 'score': 10.23}, {'connected_gene': 'ZNF317', 'score': 9.84}, {'connected_gene': 'ENSG00000167774', 'score': 0.39}, {'connected_gene': 'NDUFA7', 'score': 0.39}, {'connected_gene': 'GC19M008288', 'score': 0.37}]
chr19	GH19I007397	7397375	7400083	1.1	[{'connected_gene': 'TEX45', 'score': 11.22}, {'connected_gene': 'PEX11G', 'score': 11.21}, {'connected_gene': 'NDUFA7', 'score': 4.55}, {'connected_gene': 'ENSG00000267852', 'score': 0.77}, {'connected_gene': 'ENSG00000268861', 'score': 0.37}, {'connected_gene': 'GC19P007434', 'score': 0.28}, {'connected_gene': 'ARHGEF18', 'score': 0.25}]
chr19	GH19I007394	7394145	7396986	1.95	[{'connected_gene': 'ENSG00000267852', 'score': 550.77}, {'connected_gene': 'ARHGEF18', 'score': 550.25}, {'connected_gene': 'TEX45', 'score': 11.21}, {'connected_gene': 'PEX11G', 'score': 11.21}, {'connected_gene': 'NDUFA7', 'score': 4.55}, {'connected_gene': 'ENSG00000268861', 'score': 0.39}, {'connected_gene': 'GC19P007434', 'score': 0.28}]